{"id":"W2161723666","doi":"10.1086/340848","title":"A Comprehensive Mutation Analysis of RP2 and RPGR in a North American Cohort of Families with X-Linked Retinitis Pigmentosa","year":2002,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":246,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"National Eye Institute","keywords":"Retinitis pigmentosa; Cohort; Mutation; Medicine; Genetics; Pediatrics; Cohort study; Biology; Internal medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003737931,0.0008796167,0.0005420956,0.00194266,0.002132028,0.0006622734,0.0006075062,0.0005058605,0.00197828],"category_scores_gemma":[0.0009662363,0.0004659787,0.0004604527,0.001367482,0.0005297639,0.0003421548,0.0007167992,0.0004317354,0.0002916149],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003348374,"about_ca_system_score_gemma":0.0006058025,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.02607568,"about_ca_topic_score_gemma":0.02180076,"domain_scores_codex":[0.9993794,0.00009865489,0.00004375852,0.0002651373,0.0001296931,0.00008337839],"domain_scores_gemma":[0.9995323,0.0001202423,0.00009530274,0.00005065962,0.00008563781,0.0001158149],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003819958,0.0002225872,0.9487851,0.00002809853,0.000152549,0.01389983,0.002643384,0.0001653062,0.02706887,0.000120998,0.0005824033,0.005949082],"study_design_scores_gemma":[0.00001587047,0.00009248167,0.9839144,0.00001006027,0.00009414702,0.01340984,0.0007800686,0.0001947125,0.0007229684,0.00003035573,0.0007217996,0.00001324575],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991703,0.00008081207,0.000123392,0.00002247806,0.000003648241,0.000009693626,0.0001938289,0.000006100839,0.0003897847],"genre_scores_gemma":[0.998825,0.0001223483,0.0001930277,0.00003060859,0.000005560774,0.00001825428,0.0003077927,0.00001113216,0.0004862545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02607568,"threshold_uncertainty_score":0.05184782,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01045632946458529,"score_gpt":0.2422151980255373,"score_spread":0.231758868560952,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}